Gene Gene information from NCBI Gene database.
Entrez ID 30000
Gene name Transportin 2
Gene symbol TNPO2
Synonyms (NCBI Gene)
IDDHISDIPO3KPNB2BTRN2
Chromosome 19
Chromosome location 19p13.13
miRNA miRNA information provided by mirtarbase database.
817
miRTarBase ID miRNA Experiments Reference
MIRT019238 hsa-miR-331-3p Sequencing 20371350
MIRT021089 hsa-miR-186-5p Sequencing 20371350
MIRT021306 hsa-miR-125a-5p Sequencing 20371350
MIRT021490 hsa-miR-191-5p Sequencing 20371350
MIRT050201 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12896982, 21044950, 21516116, 25416956, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 9298975
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603002 19998 ENSG00000105576
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14787
Protein name Transportin-2 (Karyopherin beta-2b)
Protein function Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore comple
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03810 IBN_N 31 99 Importin-beta N-terminal domain Family
Sequence
MDWQPDEQGLQQVLQLLKDSQSPNTATQRIVQDKLKQLNQFPDFNNYLIFVLTRLKSEDE
PTRSLSGLILKNNVKAHYQSFPPPVADFIKQECLNNIGD
ASSLIRATIGILITTIASKGE
LQMWPELLPQLCNLLNSEDYNTCEGAFGALQKICEDSSELLDSDALNRPLNIMIPKFLQF
FKHCSPKIRSHAIACVNQFIMDRAQALMDNIDTFIEHLFALAVDDDPEVRKNVCRALVML
LEVRIDRLIPHMHSIIQYMLQRTQDHDENVALEACEFWLTLAEQPICKEVLASHLVQLIP
ILVNGMKYSEIDIILLKGDVEEDEAVPDSEQDIKPRFHKSRTVTLPHEAERPDGSEDAED
DDDDDALSDWNLRKCSAAALDVLANVFREELLPHLLPLLKGLLFHPEWVVKESGILVLGA
IAEGCMQGMVPYLPELIPHLIQCLSDKKALVRSIACWTLSRYAHWVVSQPPDMHLKPLMT
ELLKRILDGNKRVQEAACSAFATLEEEACTELVPYLSYILDTLVFAFGKYQHKNLLILYD
AIGTLADSVGHHLNQPEYIQKLMPPLIQKWNELKDEDKDLFPLLECLSSVATALQSGFLP
YCEPVYQRCVTLVQKTLAQAMMYTQHPEQYEAPDKDFMIVALDLLSGLAEGLGGHVEQLV
ARSNIMTLLFQCMQDSMPEVRQSSFALLGDLTKACFIHVKPCIAEFMPILGTNLNPEFIS
VCNNATWAIGEICMQMGAEMQPYVQMVLNNLVEIINRPNTPKTLLENTGRLTSPSAIPAI
TIGRLGYVCPQEVAPMLQQFIRPWCTSLRNIRDNEEKDSAFRGICMMIGVNPGGVVQDFI
FFCDAVASWVSPKDDLRDMFYKILHGFKDQVGEDNWQQFSEQFPPLLKERLAAFYGV
Sequence length 897
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Nucleocytoplasmic transport  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies Pathogenic; Likely pathogenic rs2145582779, rs2145550093, rs2145550047, rs2145492785, rs2145464965, rs2145464604, rs2145492753, rs2512705615, rs2512705295 RCV001730148
RCV001730149
RCV001730150
RCV001730151
RCV001754568
RCV001808855
RCV002253064
RCV003493292
RCV003885405
Neurodevelopmental disorder Likely pathogenic rs2145496104 RCV001780040
TNPO2-related disorder Pathogenic; Likely pathogenic rs2145582779, rs2512652630 RCV004728786
RCV003402800
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Uncertain significance rs766129993 RCV005932241
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Stomach Neoplasms Associate 31605449